Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E483*
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MYOC

NM_000261.2:p.E483*

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Scelsi HF et al.

Human Mutation, 2021

Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Stothert AR et al.

Experimental Eye Research, 2016

Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.

Crawford A et al.

Gene, 2014

Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.

Pandaranayaka PJ et al.

Molecular Vision, 2010

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

Fingert JH et al.

Investigative Ophthalmology & Visual Science, 2001

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

Fingert JH et al.

Human Molecular Genetics, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."